title: Four new Finnish families with LGMD1D; refinement of the clinical phenotype and the linked 7q36 locus.
abstract: The objective is to refine the clinical and morphological phenotype and the chromosomal region of interest, in the recently reported 7q36 linked autosomal dominant limb-girdle muscular dystrophy (LGMD1 D/E), by describing four new informative Finnish families. Examinations of the patients included serum CK, neurophysiological studies, cardiac and respiratory function examinations, muscle biopsies and muscle imaging. DNA samples were analyzed by genotyping. Patients in all families had very similar phenotypes with onset of muscle weakness in the pelvic girdle muscles between the fourth and sixth decade, later involvement of the shoulder girdle, and marked walking difficulties in the eighth decade. Muscle biopsies showed myopathic and/or dystrophic features. Genotyping confirmed linkage to the same locus at chromosome 7q36 in all families by one identically segregating haplotype. The linked region was narrowed down from <6.3 to <3.4Mb. Sequencing of the genes in the area is ongoing, aiming to identify the genetic defect.
authors.affiliation: Folkhälsan Institute of Genetics and Department of Medical Genetics, Haartman Institute, University of Helsinki, Finland. peter.hackman@helsinki.fi
authors.forename: Peter
authors.initials: P
authors.lastname: Hackman
authors.forename: Satu
authors.initials: S
authors.lastname: Sandell
authors.forename: Jaakko
authors.initials: J
authors.lastname: Sarparanta
authors.forename: Helena
authors.initials: H
authors.lastname: Luque
authors.forename: Sanna
authors.initials: S
authors.lastname: Huovinen
authors.forename: Johanna
authors.initials: J
authors.lastname: Palmio
authors.forename: Anders
authors.initials: A
authors.lastname: Paetau
authors.forename: Hannu
authors.initials: H
authors.lastname: Kalimo
authors.forename: Ibrahim
authors.initials: I
authors.lastname: Mahjneh
authors.forename: Bjarne
authors.initials: B
authors.lastname: Udd
mesh_terms: D000293:Adolescent; D000328:Adult; D002648:Child; D002675:Child, Preschool; D002874:Chromosome Mapping; D002897:Chromosomes, Human, Pair 7 / Q000235:genetics*; D003402:Creatine Kinase / Q000097:blood; D004562:Electrocardiography; D004576:Electromyography; D005192:Family Health; D005260:Female; D005387:Finland / Q000208:ethnology; D008040:Genetic Linkage; D005838:Genotype; D006801:Humans; D008297:Male; D008967:Molecular Biology / Q000379:methods; D049288:Muscular Dystrophies, Limb-Girdle / Q000235:genetics / Q000473:pathology; D010641:Phenotype; D055815:Young Adult
chemical_list: D003402:Creatine Kinase